For the DSD patients in whom WES identified P/LP variants (n=34), the most common variants among males (n=15) were AR variants (n=4), HH with FGFR1 and ANOS1 (n=4, including two affected cousins), an NR5A1 variant in twin boys (n=2) and AMHR2 variants in siblings (n=2). Here, NR5A1 is linked to disorder of sexual differentiation.